<i>DEGS1</i> -Related Hypomyelinating Leukodystrophy
This report expands on the documented knowledge of <i>DEGS1</i>-related leukodystrophy and adds to the current understanding of the phenotypic range of affected individuals. Consideration of variability in the condition's natural history and outcome is key to appropriately counsel patients and families.
Authors
- Mark A. Tarnopolsky (ORCID: https://orcid.org/0000-0003-0312-3746)
- Resham Ejaz (ORCID: https://orcid.org/0000-0001-5846-4439)
- Robyn Whitney (ORCID: https://orcid.org/0000-0001-6851-0646)
- Rajesh RamachandranNair (ORCID: https://orcid.org/0000-0003-0368-8640)
- Breanne Dale (ORCID: https://orcid.org/0000-0001-5034-7457)
- Mark Grinberg (ORCID: https://orcid.org/0009-0001-0079-7596)
Institutions
- McMaster University Medical Centre (CA)
- McMaster Children's Hospital (CA)
- McMaster University (CA)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1212/nxg.0000000000200334
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00